List of variants in gene HLCS reported as uncertain significance for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)	rs142621386	0.00043
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)	rs144705277	0.00043
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)	rs147474255	0.00018
NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp)	rs139902499	0.00013
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)	rs200453837	0.00012
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile)	rs145648338	0.00007
NM_001352514.2(HLCS):c.1068G>A (p.Pro356=)	rs73196003	0.00006
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)	rs200950813	0.00004
NM_001352514.2(HLCS):c.2332T>G (p.Leu778Val)	rs199517800	0.00003
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr)	rs777373322	0.00002
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu)	rs759396333	0.00001
NM_001352514.2(HLCS):c.849C>G (p.Ser283Arg)	rs750202558	0.00001
NM_001352514.2(HLCS):c.926C>T (p.Pro309Leu)	rs771688112	0.00001
GRCh37/hg19 21q22.13(chr21:38216327-38311768)x1
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe)	rs1569216588
NM_001352514.2(HLCS):c.1158G>T (p.Gln386His)
NM_001352514.2(HLCS):c.1233C>G (p.His411Gln)	rs1601802008
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)	rs767190021
NM_001352514.2(HLCS):c.1970G>A (p.Gly657Glu)	rs139216349
NM_001352514.2(HLCS):c.2091G>A (p.Val697=)	rs773627772
NM_001352514.2(HLCS):c.2494T>C (p.Ser832Pro)	rs1568956511
NM_001352514.2(HLCS):c.95C>T (p.Ser32Leu)	rs911599606

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.